Laura K Conlin

Affiliations

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Publications (18)

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

The Journal of molecular diagnostics : JMD

Avec: Samuel W Baker , Jill R Murrell , Addie I Nesbitt , Kieran B Pechter , Jorune Balciuniene , Xiaonan Zhao , Zhenming Yu , Elizabeth H Denenberg , Elizabeth T DeChene , Alisha B Wilkens , Elizabeth J Bhoj , Qiaoning Guan , Matthew C Dulik , Laura K Conlin , Ahmad N Abou Tayoun , Minjie Luo , Chao Wu , Kajia Cao , Mahdi Sarmady , Emma C Bedoukian , Jennifer Tarpinian , Livija Medne , Cara M Skraban , Matthew A Deardorff , Ian D Krantz , Bryan L Krock , Avni B Santani

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Human mutation

Avec: Melissa A Gilbert , Laura Schultz-Rogers , Ramakrishnan Rajagopalan , Christopher M Grochowski , Benjamin J Wilkins , Sawona Biswas , Laura K Conlin , Kristin N Fiorino , Radhika Dhamija , Michael A Pack , Eric W Klee , David A Piccoli , Nancy B Spinner

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

Brain : a journal of neurology

Avec: Yousra El Ghaleb , Pauline E Schneeberger , Monica L Fernández-Quintero , Stefanie M Geisler , Simone Pelizzari , Abeltje M Polstra , Johanna M van Hagen , Jonas Denecke , Marta Campiglio , Klaus R Liedl , Cathy A Stevens , Richard E Person , Stefan Rentas , Eric D Marsh , Laura K Conlin , Petronel Tuluc , Kerstin Kutsche , Bernhard E Flucher

A novel

Cold Spring Harbor molecular case studies

Avec: Feng Xu , Erfan Aref-Eshghi , Jinhua Wu , Jeffrey Schubert , Gerald Wertheim , Tricia Bhatti , Jennifer Pogoriler , Maha Patel , Kajia Cao , Ariel Long , Zhiqian Fan , Elizabeth H Denenberg , Elizabeth A Fanning , Donna M Wilmoth , Minjie Luo , Laura K Conlin , Aleksandra S Dain , Kristin Zelley , Sarah Baldino , Naomi Balamuth , Suzanne MacFarland , Marilyn M Li , Yiming Zhong

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Archives of pathology & laboratory medicine

Avec: Daniel P Larson , Yassmine M Akkari , Daniel L Van Dyke , Gordana Raca , Juli-Anne Gardner , Catherine W Rehder , Kathleen A Kaiser-Rogers , Penny Eagle , Jason A Yuhas , Jun Gu , Reha M Toydemir , Hutton Kearney , Laura K Conlin , Guilin Tang , Michelle M Dolan , Rhett P Ketterling , Jess F Peterson

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA network open

Avec: Jorune Balciuniene , Elizabeth T DeChene , Gozde Akgumus , Edward J Romasko , Kajia Cao , Holly A Dubbs , Surabhi Mulchandani , Nancy B Spinner , Laura K Conlin , Eric D Marsh , Ethan Goldberg , Ingo Helbig , Mahdi Sarmady , Ahmad Abou Tayoun

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: M Ragan Hart , Barbara B Biesecker , Carrie L Blout , Kurt D Christensen , Laura M Amendola , Katie L Bergstrom , Sawona Biswas , Kevin M Bowling , Kyle B Brothers , Laura K Conlin , Greg M Cooper , Matthew C Dulik , Kelly M East , Jessica N Everett , Candice R Finnila , Arezou A Ghazani , Marian J Gilmore , Katrina A B Goddard , Gail P Jarvik , Jennifer J Johnston , Tia L Kauffman , Whitley V Kelley , Joel B Krier , Katie L Lewis , Amy L McGuire , Carmit McMullen , Jeffrey Ou , Sharon E Plon , Heidi L Rehm , C Sue Richards , Edward J Romasko , Ane Miren Sagardia , Nancy B Spinner , Michelle L Thompson , Erin Turbitt , Jason L Vassy , Benjamin S Wilfond , David L Veenstra , Jonathan S Berg , Robert C Green , Leslie G Biesecker , Lucia A Hindorff

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.

Journal of human genetics

Avec: Rie Kawamura , Takema Kato , Shunsuke Miyai , Fumihiko Suzuki , Yuki Naru , Maki Kato , Keiko Tanaka , Miwako Nagasaka , Makiko Tsutsumi , Hidehito Inagaki , Tomoaki Ioroi , Makiko Yoshida , Tomoya Nao , Laura K Conlin , Kazumoto Iijima , Hiroki Kurahashi , Mariko Taniguchi-Ikeda

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.

Molecular cytogenetics

Avec: Xiaolin Hu , Elizabeth K Baker , Jodie Johnson , Stephanie Balow , Loren D M Pena , Laura K Conlin , Qiaoning Guan , Teresa A Smolarek

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

The Journal of molecular diagnostics : JMD

Avec: Jill R Murrell , Addie May I Nesbitt , Samuel W Baker , Kieran B Pechter , Jorune Balciuniene , Xiaonan Zhao , Elizabeth H Denenberg , Elizabeth T DeChene , Chao Wu , Pushkala Jayaraman , Kajia Cao , Michael Gonzalez , Marcella Devoto , Alessandro Testori , John D Monos , Matthew C Dulik , Laura K Conlin , Minjie Luo , Kristin McDonald Gibson , Qiaoning Guan , Mahdi Sarmady , Elizabeth Bhoj , Ingo Helbig , Elaine H Zackai , Emma C Bedoukian , Alisha Wilkens , Jennifer Tarpinian , Kosuke Izumi , Cara M Skraban , Matthew A Deardorff , Livija Medne , Ian D Krantz , Bryan L Krock , Avni B Santani

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Molecular cytogenetics

Avec: Dong Li , Alanna Strong , Cuiping Hou , Helen Downes , Amanda Barone Pritchard , Pamela Mazzeo , Elaine H Zackai , Laura K Conlin , Hakon Hakonarson

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Heidi L Rehm , Joseph T Alaimo , Swaroop Aradhya , Pinar Bayrak-Toydemir , Hunter Best , Rhonda Brandon , Jillian G Buchan , Elizabeth C Chao , Elaine Chen , Jacob Clifford , Ana S A Cohen , Laura K Conlin , Soma Das , Kyle W Davis , Daniela Del Gaudio , Florencia Del Viso , Christina DiVincenzo , Marcia Eisenberg , Lucia Guidugli , Monia B Hammer , Steven M Harrison , Kathryn E Hatchell , Lindsay Havens Dyer , Lily U Hoang , James M Holt , Vaidehi Jobanputra , Izabela D Karbassi , Hutton M Kearney , Melissa A Kelly , Jacob M Kelly , Michelle L Kluge , Timothy Komala , Paul Kruszka , Lynette Lau , Matthew S Lebo , Christian R Marshall , Dianalee McKnight , Kirsty McWalter , Yan Meng , Narasimhan Nagan , Christian S Neckelmann , Nir Neerman , Zhiyv Niu , Vitoria K Paolillo , Sarah A Paolucci , Denise Perry , Tina Pesaran , Kelly Radtke , Kristen J Rasmussen , Kyle Retterer , Carol J Saunders , Elizabeth Spiteri , Christine Stanley , Anna Szuto , Ryan J Taft , Isabelle Thiffault , Brittany C Thomas , Amanda Thomas-Wilson , Erin Thorpe , Timothy J Tidwell , Meghan C Towne , Hana Zouk , Auteur inconnu

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

The Journal of pediatrics

Avec: Nobuko Yamamoto , Jorune Balciuniene , Tiffiney Hartman , Maria Alejandra Diaz-Miranda , Emma Bedoukian , Batsal Devkota , Audrey Lawrence , Netta Golenberg , Maha Patel , Archana Tare , Robert Chen , Emma Schindler , Jiwon Choi , Maninder Kaur , Sarah Charles , Jiani Chen , Elizabeth A Fanning , Elizabeth Dechene , Kajia Cao , Murrell R Jill , Ramakrishnan Rajagopalan , Yavuz Bayram , Matthew C Dulik , John Germiller , Laura K Conlin , Ian D Krantz , Minjie Luo

Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

Journal of the National Cancer Institute

Avec: Minjie Luo , Derek Wong , Kristin Zelley , Jinhua Wu , Jeffery Schubert , Elizabeth H Denenberg , Elizabeth A Fanning , Jiani Chen , Daniel Gallo , Netta Golenberg , Maha Patel , Laura K Conlin , Kara N Maxwell , Gerald B Wertheim , Lea F Surrey , Yiming Zhong , Garrett M Brodeur , Suzanne P MacFarland , Marilyn M Li

Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome.

Cancer genetics

Avec: Stefan Rentas , Vinodh Pillai , Gerald B Wertheim , Gozde T Akgumus , Kim E Nichols , Matthew A Deardorff , Laura K Conlin , Marilyn M Li , Timothy S Olson , Minjie Luo

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Ramakrishnan Rajagopalan , Melissa A Gilbert , Deborah A McEldrew , James A Nassur , Kathleen M Loomes , David A Piccoli , Ian D Krantz , Laura K Conlin , Nancy B Spinner

Long-read sequencing for molecular diagnostics in constitutional genetic disorders.

Human mutation

Avec: Laura K Conlin , Erfan Aref-Eshghi , Deborah A McEldrew , Minjie Luo , Ramakrishnan Rajagopalan

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Molecular syndromology

Avec: Kosuke Izumi , Rebecca D Ganetzky , Gerald B W Wertheim , Cara M Skraban , Emma C Bedoukian , Alisha Wilkens , Christopher Fincher , Nina H Thomas , Jill P Ginsberg , Susan R Rheingold , Laura K Conlin , Matthew A Deardorff

Réseau de co-auteurs

Minjie Luo 7 collaborations

Kajia Cao 5 collaborations

Jorune Balciuniene 4 collaborations

Elizabeth H Denenberg 4 collaborations

Matthew C Dulik 4 collaborations

Matthew A Deardorff 4 collaborations

Ian D Krantz 4 collaborations

Ramakrishnan Rajagopalan 4 collaborations

Nancy B Spinner 4 collaborations

Elizabeth T DeChene 3 collaborations

Qiaoning Guan 3 collaborations

Mahdi Sarmady 3 collaborations

Emma C Bedoukian 3 collaborations

Cara M Skraban 3 collaborations

Maha Patel 3 collaborations

Elizabeth A Fanning 3 collaborations

Marilyn M Li 3 collaborations

Samuel W Baker 2 collaborations

Jill R Murrell 2 collaborations

Kieran B Pechter 2 collaborations

Xiaonan Zhao 2 collaborations

Chao Wu 2 collaborations

Jennifer Tarpinian 2 collaborations

Livija Medne 2 collaborations

Bryan L Krock 2 collaborations

Avni B Santani 2 collaborations

Melissa A Gilbert 2 collaborations

Sawona Biswas 2 collaborations

David A Piccoli 2 collaborations

Stefan Rentas 2 collaborations

Eric D Marsh 2 collaborations

Erfan Aref-Eshghi 2 collaborations

Jinhua Wu 2 collaborations

Kristin Zelley 2 collaborations

Yiming Zhong 2 collaborations

Edward J Romasko 2 collaborations

Ingo Helbig 2 collaborations

Heidi L Rehm 2 collaborations

Elaine H Zackai 2 collaborations

Alisha Wilkens 2 collaborations

Kosuke Izumi 2 collaborations

Netta Golenberg 2 collaborations

Jiani Chen 2 collaborations

Gerald B Wertheim 2 collaborations

Deborah A McEldrew 2 collaborations

Addie I Nesbitt 1 collaboration

Zhenming Yu 1 collaboration

Alisha B Wilkens 1 collaboration

Elizabeth J Bhoj 1 collaboration

Ahmad N Abou Tayoun 1 collaboration

Laura Schultz-Rogers 1 collaboration

Christopher M Grochowski 1 collaboration

Benjamin J Wilkins 1 collaboration

Kristin N Fiorino 1 collaboration

Radhika Dhamija 1 collaboration

Michael A Pack 1 collaboration

Eric W Klee 1 collaboration

Yousra El Ghaleb 1 collaboration

Pauline E Schneeberger 1 collaboration

Monica L Fernández-Quintero 1 collaboration

Stefanie M Geisler 1 collaboration

Simone Pelizzari 1 collaboration

Abeltje M Polstra 1 collaboration

Johanna M van Hagen 1 collaboration

Jonas Denecke 1 collaboration

Marta Campiglio 1 collaboration

Klaus R Liedl 1 collaboration

Cathy A Stevens 1 collaboration

Richard E Person 1 collaboration

Petronel Tuluc 1 collaboration

Kerstin Kutsche 1 collaboration

Bernhard E Flucher 1 collaboration

Feng Xu 1 collaboration

Jeffrey Schubert 1 collaboration

Gerald Wertheim 1 collaboration

Tricia Bhatti 1 collaboration

Jennifer Pogoriler 1 collaboration

Ariel Long 1 collaboration

Zhiqian Fan 1 collaboration

Donna M Wilmoth 1 collaboration

Aleksandra S Dain 1 collaboration

Sarah Baldino 1 collaboration

Naomi Balamuth 1 collaboration

Suzanne MacFarland 1 collaboration

Daniel P Larson 1 collaboration

Yassmine M Akkari 1 collaboration

Daniel L Van Dyke 1 collaboration

Gordana Raca 1 collaboration

Juli-Anne Gardner 1 collaboration

Catherine W Rehder 1 collaboration

Kathleen A Kaiser-Rogers 1 collaboration

Penny Eagle 1 collaboration

Jason A Yuhas 1 collaboration

Jun Gu 1 collaboration

Reha M Toydemir 1 collaboration

Hutton Kearney 1 collaboration

Guilin Tang 1 collaboration

Michelle M Dolan 1 collaboration

Rhett P Ketterling 1 collaboration

Jess F Peterson 1 collaboration

Gozde Akgumus 1 collaboration

Holly A Dubbs 1 collaboration

Surabhi Mulchandani 1 collaboration

Ethan Goldberg 1 collaboration

Ahmad Abou Tayoun 1 collaboration

M Ragan Hart 1 collaboration

Barbara B Biesecker 1 collaboration

Carrie L Blout 1 collaboration

Kurt D Christensen 1 collaboration

Laura M Amendola 1 collaboration

Katie L Bergstrom 1 collaboration

Kevin M Bowling 1 collaboration

Kyle B Brothers 1 collaboration

Greg M Cooper 1 collaboration

Kelly M East 1 collaboration

Jessica N Everett 1 collaboration

Candice R Finnila 1 collaboration

Arezou A Ghazani 1 collaboration

Marian J Gilmore 1 collaboration

Katrina A B Goddard 1 collaboration

Gail P Jarvik 1 collaboration

Jennifer J Johnston 1 collaboration

Tia L Kauffman 1 collaboration

Whitley V Kelley 1 collaboration

Joel B Krier 1 collaboration

Katie L Lewis 1 collaboration

Amy L McGuire 1 collaboration

Carmit McMullen 1 collaboration

Jeffrey Ou 1 collaboration

Sharon E Plon 1 collaboration

C Sue Richards 1 collaboration

Ane Miren Sagardia 1 collaboration

Michelle L Thompson 1 collaboration

Erin Turbitt 1 collaboration

Jason L Vassy 1 collaboration

Benjamin S Wilfond 1 collaboration

David L Veenstra 1 collaboration

Jonathan S Berg 1 collaboration

Robert C Green 1 collaboration

Leslie G Biesecker 1 collaboration

Lucia A Hindorff 1 collaboration

Rie Kawamura 1 collaboration

Takema Kato 1 collaboration

Shunsuke Miyai 1 collaboration

Fumihiko Suzuki 1 collaboration

Yuki Naru 1 collaboration

Maki Kato 1 collaboration

Keiko Tanaka 1 collaboration

Miwako Nagasaka 1 collaboration

Makiko Tsutsumi 1 collaboration

Hidehito Inagaki 1 collaboration

Tomoaki Ioroi 1 collaboration

Makiko Yoshida 1 collaboration

Tomoya Nao 1 collaboration

Kazumoto Iijima 1 collaboration

Hiroki Kurahashi 1 collaboration

Mariko Taniguchi-Ikeda 1 collaboration

Xiaolin Hu 1 collaboration

Elizabeth K Baker 1 collaboration

Jodie Johnson 1 collaboration

Stephanie Balow 1 collaboration

Loren D M Pena 1 collaboration

Teresa A Smolarek 1 collaboration

Addie May I Nesbitt 1 collaboration

Pushkala Jayaraman 1 collaboration

Michael Gonzalez 1 collaboration

Marcella Devoto 1 collaboration

Alessandro Testori 1 collaboration

John D Monos 1 collaboration

Kristin McDonald Gibson 1 collaboration

Elizabeth Bhoj 1 collaboration

Dong Li 1 collaboration

Alanna Strong 1 collaboration

Cuiping Hou 1 collaboration

Helen Downes 1 collaboration

Amanda Barone Pritchard 1 collaboration

Pamela Mazzeo 1 collaboration

Hakon Hakonarson 1 collaboration

Joseph T Alaimo 1 collaboration

Swaroop Aradhya 1 collaboration

Pinar Bayrak-Toydemir 1 collaboration

Hunter Best 1 collaboration

Rhonda Brandon 1 collaboration

Jillian G Buchan 1 collaboration

Elizabeth C Chao 1 collaboration

Elaine Chen 1 collaboration

Jacob Clifford 1 collaboration

Ana S A Cohen 1 collaboration

Soma Das 1 collaboration

Kyle W Davis 1 collaboration

Daniela Del Gaudio 1 collaboration

Florencia Del Viso 1 collaboration

Christina DiVincenzo 1 collaboration

Marcia Eisenberg 1 collaboration

Lucia Guidugli 1 collaboration

Monia B Hammer 1 collaboration

Steven M Harrison 1 collaboration

Kathryn E Hatchell 1 collaboration

Lindsay Havens Dyer 1 collaboration

Lily U Hoang 1 collaboration

James M Holt 1 collaboration

Vaidehi Jobanputra 1 collaboration

Izabela D Karbassi 1 collaboration

Hutton M Kearney 1 collaboration

Melissa A Kelly 1 collaboration

Jacob M Kelly 1 collaboration

Michelle L Kluge 1 collaboration

Timothy Komala 1 collaboration

Paul Kruszka 1 collaboration

Lynette Lau 1 collaboration

Matthew S Lebo 1 collaboration

Christian R Marshall 1 collaboration

Dianalee McKnight 1 collaboration

Kirsty McWalter 1 collaboration

Yan Meng 1 collaboration

Narasimhan Nagan 1 collaboration

Christian S Neckelmann 1 collaboration

Nir Neerman 1 collaboration

Zhiyv Niu 1 collaboration

Vitoria K Paolillo 1 collaboration

Sarah A Paolucci 1 collaboration

Denise Perry 1 collaboration

Tina Pesaran 1 collaboration

Kelly Radtke 1 collaboration

Kristen J Rasmussen 1 collaboration

Kyle Retterer 1 collaboration

Carol J Saunders 1 collaboration

Elizabeth Spiteri 1 collaboration

Christine Stanley 1 collaboration

Anna Szuto 1 collaboration

Ryan J Taft 1 collaboration

Isabelle Thiffault 1 collaboration

Brittany C Thomas 1 collaboration

Amanda Thomas-Wilson 1 collaboration

Erin Thorpe 1 collaboration

Timothy J Tidwell 1 collaboration

Meghan C Towne 1 collaboration

Hana Zouk 1 collaboration

None None 1 collaboration

Nobuko Yamamoto 1 collaboration

Tiffiney Hartman 1 collaboration

Maria Alejandra Diaz-Miranda 1 collaboration

Emma Bedoukian 1 collaboration

Batsal Devkota 1 collaboration

Audrey Lawrence 1 collaboration

Archana Tare 1 collaboration

Robert Chen 1 collaboration

Emma Schindler 1 collaboration

Jiwon Choi 1 collaboration

Maninder Kaur 1 collaboration

Sarah Charles 1 collaboration

Elizabeth Dechene 1 collaboration

Murrell R Jill 1 collaboration

Yavuz Bayram 1 collaboration

John Germiller 1 collaboration

Derek Wong 1 collaboration

Jeffery Schubert 1 collaboration

Daniel Gallo 1 collaboration

Kara N Maxwell 1 collaboration

Lea F Surrey 1 collaboration

Garrett M Brodeur 1 collaboration

Suzanne P MacFarland 1 collaboration

Vinodh Pillai 1 collaboration

Gozde T Akgumus 1 collaboration

Kim E Nichols 1 collaboration

Timothy S Olson 1 collaboration

James A Nassur 1 collaboration

Kathleen M Loomes 1 collaboration

Rebecca D Ganetzky 1 collaboration

Gerald B W Wertheim 1 collaboration

Christopher Fincher 1 collaboration

Nina H Thomas 1 collaboration

Jill P Ginsberg 1 collaboration

Susan R Rheingold 1 collaboration